All publications of “Terezinha Sarquis Cintra”

2 results

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

Lucas Luís Meigre Dias Pereira ORCID logo , Cristina Augusta Bravin ORCID logo , Terezinha Sarquis Cintra ORCID logo , Wélida Santos Portela Cassa ORCID logo , Thainá Altoé Santos ORCID logo , Armando Fonseca ORCID logo , [...]

DOI: 10.31744/einstein_journal/2019AO4436

ABSTRACT Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction – (qPCR) to investigate the presence of variants associated with the deficiency. Results The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified […]

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

Rodrigo Pratte-Santos, Katyanne Heringer Ribeiro, Thainá Altoe Santos, Terezinha Sarquis Cintra

DOI: 10.1590/S1679-45082016AO3592

ABSTRACTObjectiveTo investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype.Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients.Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results – in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants.Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and […]